Incidental Mutation 'R9112:Lrrc8a'
ID 692281
Institutional Source Beutler Lab
Gene Symbol Lrrc8a
Ensembl Gene ENSMUSG00000007476
Gene Name leucine rich repeat containing 8A VRAC subunit A
Synonyms ebo, Lrrc8, SWELL1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9112 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30127781-30153802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30145782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 199 (S199T)
Ref Sequence ENSEMBL: ENSMUSP00000092690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095078] [ENSMUST00000113654] [ENSMUST00000139454]
AlphaFold Q80WG5
Predicted Effect probably damaging
Transcript: ENSMUST00000095078
AA Change: S199T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: S199T

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 340 1.4e-146 PFAM
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113654
AA Change: S199T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: S199T

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 3.3e-32 PFAM
Pfam:DUF3733 97 156 2e-22 PFAM
transmembrane domain 320 342 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139454
AA Change: S199T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: S199T

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 3.3e-32 PFAM
Pfam:DUF3733 97 156 2e-22 PFAM
transmembrane domain 320 342 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Meta Mutation Damage Score 0.0786 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,100,806 (GRCm39) S181G possibly damaging Het
5730596B20Rik A G 6: 52,156,413 (GRCm39) R160G unknown Het
Acy1 A G 9: 106,311,952 (GRCm39) Y262H probably benign Het
Adamts13 T C 2: 26,880,379 (GRCm39) S681P possibly damaging Het
Adgra3 C A 5: 50,118,395 (GRCm39) C1051F probably damaging Het
Afp T C 5: 90,652,289 (GRCm39) probably null Het
Agrn A T 4: 156,261,514 (GRCm39) V568E probably damaging Het
Ahnak A G 19: 8,987,149 (GRCm39) E2811G probably damaging Het
Ap1m1 C A 8: 72,994,066 (GRCm39) Y7* probably null Het
Apobec1 T A 6: 122,555,837 (GRCm39) T207S probably benign Het
Arhgap32 G A 9: 32,157,309 (GRCm39) R102Q probably damaging Het
Bcat2 T C 7: 45,237,446 (GRCm39) probably null Het
Cd209f T A 8: 4,155,802 (GRCm39) probably benign Het
Cox7c G A 13: 86,194,837 (GRCm39) probably benign Het
Cyp2d11 A G 15: 82,276,203 (GRCm39) V156A possibly damaging Het
Dhrs3 A T 4: 144,653,769 (GRCm39) T297S probably benign Het
Dip2c T C 13: 9,660,766 (GRCm39) C876R probably damaging Het
Eprs1 A T 1: 185,129,273 (GRCm39) I587F probably damaging Het
Fam13c A G 10: 70,286,978 (GRCm39) T81A probably benign Het
Flt4 A G 11: 49,524,064 (GRCm39) Y548C probably damaging Het
Garin2 T C 12: 78,757,202 (GRCm39) probably null Het
Gimap4 T A 6: 48,667,629 (GRCm39) V128E probably benign Het
Gm32742 A G 9: 51,060,735 (GRCm39) L856P possibly damaging Het
Gm5916 A G 9: 36,032,258 (GRCm39) Y59H probably damaging Het
Gnai3 A T 3: 108,030,990 (GRCm39) H57Q Het
Golga3 G T 5: 110,333,757 (GRCm39) R131L probably benign Het
Gpc6 A T 14: 117,424,088 (GRCm39) I59F probably benign Het
H2bc6 T C 13: 23,769,753 (GRCm39) M63V possibly damaging Het
Herc6 T C 6: 57,596,604 (GRCm39) S515P probably damaging Het
Ift74 T C 4: 94,575,103 (GRCm39) I518T probably benign Het
Kat6b T C 14: 21,675,256 (GRCm39) S474P possibly damaging Het
Klhl3 A C 13: 58,248,212 (GRCm39) I28S unknown Het
Klrh1 T A 6: 129,743,697 (GRCm39) I196F probably benign Het
Lipi A G 16: 75,359,159 (GRCm39) F259S probably damaging Het
Map2 T A 1: 66,472,723 (GRCm39) C1709* probably null Het
Mrgprf A G 7: 144,861,503 (GRCm39) S22G probably benign Het
Myo1e G T 9: 70,274,983 (GRCm39) R712L probably benign Het
Nras A T 3: 102,967,658 (GRCm39) N85Y probably benign Het
Or4a71 C T 2: 89,358,337 (GRCm39) C139Y probably damaging Het
Or5b3 A T 19: 13,388,475 (GRCm39) I181F probably benign Het
Or6ae1 A G 7: 139,742,660 (GRCm39) S68P Het
Or9q2 T C 19: 13,772,780 (GRCm39) H65R probably damaging Het
Pcp2 T A 8: 3,674,638 (GRCm39) probably benign Het
Pigv T C 4: 133,392,079 (GRCm39) R364G probably benign Het
Plekhh3 T A 11: 101,061,625 (GRCm39) S30C probably damaging Het
Poglut3 A G 9: 53,295,530 (GRCm39) Y44C probably damaging Het
Pramel11 A C 4: 143,623,334 (GRCm39) V280G possibly damaging Het
Pramel51 C T 12: 88,144,055 (GRCm39) A261T possibly damaging Het
Rhof T C 5: 123,258,571 (GRCm39) probably benign Het
Rufy3 A T 5: 88,780,336 (GRCm39) E361D Het
Serpina1b T C 12: 103,698,699 (GRCm39) D50G probably benign Het
Sgsm2 G A 11: 74,756,222 (GRCm39) Q376* probably null Het
Slc18b1 A T 10: 23,692,262 (GRCm39) I246F probably damaging Het
Slc38a9 A T 13: 112,850,777 (GRCm39) N387I probably damaging Het
Synrg C G 11: 83,862,409 (GRCm39) P35A probably damaging Het
Tdrp T C 8: 14,005,796 (GRCm39) K42E probably damaging Het
Trappc10 A C 10: 78,029,201 (GRCm39) M1112R probably damaging Het
Ube2e1 A G 14: 18,285,203 (GRCm38) V90A probably damaging Het
Vwde C A 6: 13,205,051 (GRCm39) V277F possibly damaging Het
Zfyve16 A G 13: 92,659,563 (GRCm39) M116T possibly damaging Het
Other mutations in Lrrc8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Lrrc8a APN 2 30,145,327 (GRCm39) missense probably benign 0.32
IGL01161:Lrrc8a APN 2 30,145,822 (GRCm39) missense probably damaging 1.00
IGL01419:Lrrc8a APN 2 30,147,111 (GRCm39) missense probably benign 0.09
IGL01757:Lrrc8a APN 2 30,145,537 (GRCm39) missense possibly damaging 0.81
IGL02390:Lrrc8a APN 2 30,146,713 (GRCm39) missense probably damaging 1.00
IGL02608:Lrrc8a APN 2 30,146,311 (GRCm39) missense possibly damaging 0.91
IGL02938:Lrrc8a APN 2 30,145,698 (GRCm39) missense probably damaging 1.00
IGL02960:Lrrc8a APN 2 30,147,025 (GRCm39) missense probably damaging 1.00
IGL03139:Lrrc8a APN 2 30,145,683 (GRCm39) missense probably damaging 1.00
IGL03166:Lrrc8a APN 2 30,145,377 (GRCm39) missense probably benign
R0033:Lrrc8a UTSW 2 30,145,357 (GRCm39) missense probably damaging 1.00
R0033:Lrrc8a UTSW 2 30,145,357 (GRCm39) missense probably damaging 1.00
R0276:Lrrc8a UTSW 2 30,146,800 (GRCm39) missense possibly damaging 0.54
R0432:Lrrc8a UTSW 2 30,147,079 (GRCm39) missense probably damaging 1.00
R0751:Lrrc8a UTSW 2 30,146,362 (GRCm39) missense possibly damaging 0.82
R1924:Lrrc8a UTSW 2 30,145,262 (GRCm39) missense probably damaging 1.00
R2029:Lrrc8a UTSW 2 30,146,661 (GRCm39) missense probably damaging 1.00
R3852:Lrrc8a UTSW 2 30,151,972 (GRCm39) missense probably benign 0.30
R4898:Lrrc8a UTSW 2 30,147,214 (GRCm39) missense probably benign 0.00
R5175:Lrrc8a UTSW 2 30,145,524 (GRCm39) missense probably damaging 1.00
R5616:Lrrc8a UTSW 2 30,145,366 (GRCm39) missense probably benign 0.09
R5874:Lrrc8a UTSW 2 30,147,148 (GRCm39) missense probably damaging 1.00
R6228:Lrrc8a UTSW 2 30,146,565 (GRCm39) missense possibly damaging 0.82
R6406:Lrrc8a UTSW 2 30,147,103 (GRCm39) missense possibly damaging 0.56
R6456:Lrrc8a UTSW 2 30,145,486 (GRCm39) missense probably benign 0.14
R6833:Lrrc8a UTSW 2 30,145,659 (GRCm39) missense possibly damaging 0.92
R6834:Lrrc8a UTSW 2 30,145,659 (GRCm39) missense possibly damaging 0.92
R6945:Lrrc8a UTSW 2 30,146,239 (GRCm39) missense probably damaging 1.00
R7675:Lrrc8a UTSW 2 30,145,680 (GRCm39) missense probably damaging 1.00
R8500:Lrrc8a UTSW 2 30,146,208 (GRCm39) missense possibly damaging 0.65
R8528:Lrrc8a UTSW 2 30,145,557 (GRCm39) missense probably damaging 1.00
R8734:Lrrc8a UTSW 2 30,146,619 (GRCm39) missense probably benign 0.12
R8879:Lrrc8a UTSW 2 30,146,310 (GRCm39) missense probably benign 0.16
R9130:Lrrc8a UTSW 2 30,147,042 (GRCm39) missense possibly damaging 0.82
R9456:Lrrc8a UTSW 2 30,145,663 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc8a UTSW 2 30,146,325 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGCCTGTAGCAACTTC -3'
(R):5'- ATGGTCTGCCGCATGTACAG -3'

Sequencing Primer
(F):5'- GCCTGTAGCAACTTCTGGTTCAAG -3'
(R):5'- TACAGGCGGTACACAATGTC -3'
Posted On 2021-12-30